Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.81646357A>C | CA2666623865 | GBE1 | c.782+35T>G (n.782+35T>G) c.659+35T>G (n.659+35T>G) n.332+35T>G | gnomAD v4 |
3 | g.81646357A>G | CA2666623866 | GBE1 | c.782+35T>C (n.782+35T>C) c.659+35T>C (n.659+35T>C) n.332+35T>C | gnomAD v4 |
3 | g.81646360_81646361delinsTA | CA1378729085 | GBE1 | c.782+31_782+32delinsTA (n.782+31_782+32delinsTA) c.659+31_659+32delinsTA (n.659+31_659+32delinsTA) n.332+31_332+32delinsTA | |
3 | g.81646365del | CA2499867 | GBE1 | c.782+31del (n.782+31del) c.659+31del (n.659+31del) n.332+31del | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.81646362A>G | CA2666623867 | GBE1 | c.782+30T>C (n.782+30T>C) c.659+30T>C (n.659+30T>C) n.332+30T>C | gnomAD v4 |
3 | g.81646363A= | CA1378729086 | GBE1 | c.782+29T= (n.782+29T=) c.659+29T= (n.659+29T=) n.332+29T= | |
3 | g.81646363A>G | CA2666623868 | GBE1 | c.782+29T>C (n.782+29T>C) c.659+29T>C (n.659+29T>C) n.332+29T>C | gnomAD v4 |
3 | g.81646363A>T | CA1378729087 | GBE1 | c.782+29T>A (n.782+29T>A) c.659+29T>A (n.659+29T>A) n.332+29T>A | dbSNP |
3 | g.81646364A>G | CA2666623869 | GBE1 | c.782+28T>C (n.782+28T>C) c.659+28T>C (n.659+28T>C) n.332+28T>C | gnomAD v4 |
3 | g.81646365A>G | CA2666623870 | GBE1 | c.782+27T>C (n.782+27T>C) c.659+27T>C (n.659+27T>C) n.332+27T>C | gnomAD v4 |
3 | g.81646365A>T | CA2666623871 | GBE1 | c.782+27T>A (n.782+27T>A) c.659+27T>A (n.659+27T>A) n.332+27T>A | gnomAD v4 |
3 | g.81646366T>C | CA2499868 | GBE1 | c.782+26A>G (n.782+26A>G) c.659+26A>G (n.659+26A>G) n.332+26A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.81646366T>G | CA2666623872 | GBE1 | c.782+26A>C (n.782+26A>C) c.659+26A>C (n.659+26A>C) n.332+26A>C | gnomAD v4 |
3 | g.81646366T= | CA1378729088 | GBE1 | c.782+26A= (n.782+26A=) c.659+26A= (n.659+26A=) n.332+26A= | |
3 | g.81646367G>A | CA2666623873 | GBE1 | c.782+25C>T (n.782+25C>T) c.659+25C>T (n.659+25C>T) n.332+25C>T | gnomAD v4 |
3 | g.81646367G>T | CA2666623874 | GBE1 | c.782+25C>A (n.782+25C>A) c.659+25C>A (n.659+25C>A) n.332+25C>A | gnomAD v4 |
3 | g.81646369A>G | CA2666623875 | GBE1 | c.782+23T>C (n.782+23T>C) c.659+23T>C (n.659+23T>C) n.332+23T>C | gnomAD v4 |
3 | g.81646370C= | CA1378729089 | GBE1 | c.782+22G= (n.782+22G=) c.659+22G= (n.659+22G=) n.332+22G= | |
3 | g.81646370C>T | CA1050115951 | GBE1 | c.782+22G>A (n.782+22G>A) c.659+22G>A (n.659+22G>A) n.332+22G>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.81646371A>G | CA2666623876 | GBE1 | c.782+21T>C (n.782+21T>C) c.659+21T>C (n.659+21T>C) n.332+21T>C | gnomAD v4 |
3 | g.81646372C= | CA1378729090 | GBE1 | c.782+20G= (n.782+20G=) c.659+20G= (n.659+20G=) n.332+20G= | |
3 | g.81646372C>T | CA544277739 | GBE1 | c.782+20G>A (n.782+20G>A) c.659+20G>A (n.659+20G>A) n.332+20G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.81646373A= | CA1378729091 | GBE1 | c.782+19T= (n.782+19T=) c.659+19T= (n.659+19T=) n.332+19T= | |
3 | g.81646373A>G | CA544277743 | GBE1 | c.782+19T>C (n.782+19T>C) c.659+19T>C (n.659+19T>C) n.332+19T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.81646374A>G | CA2666623877 | GBE1 | c.782+18T>C (n.782+18T>C) c.659+18T>C (n.659+18T>C) n.332+18T>C | ClinVar gnomAD v4 |
3 | g.81646375T>C | CA78292183 | GBE1 | c.782+17A>G (n.782+17A>G) c.659+17A>G (n.659+17A>G) n.332+17A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.81646375T= | CA1378729092 | GBE1 | c.782+17A= (n.782+17A=) c.659+17A= (n.659+17A=) n.332+17A= | |
3 | g.81646376G>A | CA2666623878 | GBE1 | c.782+16C>T (n.782+16C>T) c.659+16C>T (n.659+16C>T) n.332+16C>T | gnomAD v4 |
3 | g.81646376G>T | CA2666623879 | GBE1 | c.782+16C>A (n.782+16C>A) c.659+16C>A (n.659+16C>A) n.332+16C>A | gnomAD v4 |
3 | g.81646377A>G | CA2666623880 | GBE1 | c.782+15T>C (n.782+15T>C) c.659+15T>C (n.659+15T>C) n.332+15T>C | gnomAD v4 |
3 | g.81646377A>T | CA2666623881 | GBE1 | c.782+15T>A (n.782+15T>A) c.659+15T>A (n.659+15T>A) n.332+15T>A | gnomAD v4 |
3 | g.81646378G>T | CA2577825866 | GBE1 | c.782+14C>A (n.782+14C>A) c.659+14C>A (n.659+14C>A) n.332+14C>A | gnomAD v4 |
3 | g.81646379T>A | CA2666623882 | GBE1 | c.782+13A>T (n.782+13A>T) c.659+13A>T (n.659+13A>T) n.332+13A>T | gnomAD v4 |
3 | g.81646379T>C | CA2666623883 | GBE1 | c.782+13A>G (n.782+13A>G) c.659+13A>G (n.659+13A>G) n.332+13A>G | gnomAD v4 |
3 | g.81646381T>A | CA2666623884 | GBE1 | c.782+11A>T (n.782+11A>T) c.659+11A>T (n.659+11A>T) n.332+11A>T | gnomAD v4 |
3 | g.81646381T>C | CA2577825867 | GBE1 | c.782+11A>G (n.782+11A>G) c.659+11A>G (n.659+11A>G) n.332+11A>G | gnomAD v4 |
3 | g.81646381T>G | CA2577825868 | GBE1 | c.782+11A>C (n.782+11A>C) c.659+11A>C (n.659+11A>C) n.332+11A>C | |
3 | g.81646383T>C | CA2666623885 | GBE1 | c.782+9A>G (n.782+9A>G) c.659+9A>G (n.659+9A>G) n.332+9A>G | gnomAD v4 |
3 | g.81646384G>T | CA2666623886 | GBE1 | c.782+8C>A (n.782+8C>A) c.659+8C>A (n.659+8C>A) n.332+8C>A | gnomAD v4 |
3 | g.81646384_81646385del | CA2542255062 | GBE1 | c.782+7_782+8del (n.782+7_782+8del) c.659+7_659+8del (n.659+7_659+8del) n.332+7_332+8del | |
3 | g.81646385A= | CA1378729093 | GBE1 | c.782+7T= (n.782+7T=) c.659+7T= (n.659+7T=) n.332+7T= | |
3 | g.81646385A>C | CA1050115954 | GBE1 | c.782+7T>G (n.782+7T>G) c.659+7T>G (n.659+7T>G) n.332+7T>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.81646389del | CA2577825869 | GBE1 | c.782+6del (n.782+6del) c.659+6del (n.659+6del) n.332+6del | |
3 | g.81646386_81646387insCTCCTCCAGCC | CA2500780184 | GBE1 | c.782+5_782+6insGGCTGGAGGAG (n.782+5_782+6insGGCTGGAGGAG) c.659+5_659+6insGGCTGGAGGAG (n.659+5_659+6insGGCTGGAGGAG) n.332+5_332+6insGGCTGGAGGAG | |
3 | g.81646388T>C | CA2666623887 | GBE1 | c.782+4A>G (n.782+4A>G) c.659+4A>G (n.659+4A>G) n.332+4A>G | gnomAD v4 |
3 | g.81646389T>C | CA2577825870 | GBE1 | c.782+3A>G (n.782+3A>G) c.659+3A>G (n.659+3A>G) n.332+3A>G | gnomAD v4 |
3 | g.81646394_81649923del | CA2580101946 | GBE1 | c.433_782+3del c.310_659+3del | |
3 | g.81646390A>C | CA353687986 | GBE1 | c.782+2T>G (n.782+2T>G) c.659+2T>G (n.659+2T>G) n.332+2T>G | |
3 | g.81646390A>G | CA353687987 | GBE1 | c.782+2T>C (n.782+2T>C) c.659+2T>C (n.659+2T>C) n.332+2T>C | gnomAD v4 |
3 | g.81646390A>T | CA353687988 | GBE1 | c.782+2T>A (n.782+2T>A) c.659+2T>A (n.659+2T>A) n.332+2T>A | gnomAD v4 |
3 | g.81646390dup | CA2666623888 | GBE1 | c.782+2dup (n.782+2dup) c.659+2dup (n.659+2dup) n.332+2dup | gnomAD v4 |
3 | g.81646391C>A | CA2499869 | GBE1 | c.782+1G>T (n.782+1G>T) c.659+1G>T (n.659+1G>T) n.332+1G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.81646391C= | CA1378729094 | GBE1 | c.782+1G= (n.782+1G=) c.659+1G= (n.659+1G=) n.332+1G= | |
3 | g.81646391C>G | CA353687990 | GBE1 | c.782+1G>C (n.782+1G>C) c.659+1G>C (n.659+1G>C) n.332+1G>C | |
3 | g.81646391C>T | CA353687989 | GBE1 | c.782+1G>A (n.782+1G>A) c.659+1G>A (n.659+1G>A) n.332+1G>A | gnomAD v4 |
3 | g.81646392C>A | CA353687991 | GBE1 | c.782G>T (p.Ser261Ile) c.659G>T (p.Ser220Ile) n.332G>T | gnomAD v4 |
3 | g.81646392C>G | CA353687992 | GBE1 | c.782G>C (p.Ser261Thr) c.659G>C (p.Ser220Thr) n.332G>C | gnomAD v4 |
3 | g.81646392C>T | CA353687993 | GBE1 | c.782G>A (p.Ser261Asn) c.659G>A (p.Ser220Asn) n.332G>A | |
3 | g.81646393del | CA2577825871 | GBE1 | c.781del (p.Ser261AlafsTer13) c.658del (p.Ser220AlafsTer13) n.331del | |
3 | g.81646393T>A | CA353687994 | GBE1 | c.781A>T (p.Ser261Cys) c.658A>T (p.Ser220Cys) n.331A>T | |
3 | g.81646393T>C | CA353687995 | GBE1 | c.781A>G (p.Ser261Gly) c.658A>G (p.Ser220Gly) n.331A>G | gnomAD v4 |
3 | g.81646393T>G | CA353687996 | GBE1 | c.781A>C (p.Ser261Arg) c.658A>C (p.Ser220Arg) n.331A>C | dbSNP |
3 | g.81646393T= | CA1378729095 | GBE1 | c.781A= (p.Ser261=) c.658A= (p.Ser220=) n.331A= | |
3 | g.81646394G>A | CA434493938 | GBE1 | c.780C>T (p.Ser260=) c.657C>T (p.Ser219=) n.330C>T | gnomAD v4 |
3 | g.81646394G>C | CA434493939 | GBE1 | c.780C>G (p.Ser260=) c.657C>G (p.Ser219=) n.330C>G | |
3 | g.81646394G>T | CA434493940 | GBE1 | c.780C>A (p.Ser260=) c.657C>A (p.Ser219=) n.330C>A | |
3 | g.81646395G>A | CA353687997 | GBE1 | c.779C>T (p.Ser260Phe) c.656C>T (p.Ser219Phe) n.329C>T | dbSNP |
3 | g.81646395G>C | CA2499870 | GBE1 | c.779C>G (p.Ser260Cys) c.656C>G (p.Ser219Cys) n.329C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.81646395G= | CA1378729096 | GBE1 | c.779C= (p.Ser260=) c.656C= (p.Ser219=) n.329C= | |
3 | g.81646395G>T | CA353687998 | GBE1 | c.779C>A (p.Ser260Tyr) c.656C>A (p.Ser219Tyr) n.329C>A | |
3 | g.81646396A>C | CA353687999 | GBE1 | c.778T>G (p.Ser260Ala) c.655T>G (p.Ser219Ala) n.328T>G | |
3 | g.81646396A>G | CA353688000 | GBE1 | c.778T>C (p.Ser260Pro) c.655T>C (p.Ser219Pro) n.328T>C | gnomAD v4 |
3 | g.81646396A>T | CA353688001 | GBE1 | c.778T>A (p.Ser260Thr) c.655T>A (p.Ser219Thr) n.328T>A | |
3 | g.81646397A>C | CA434493941 | GBE1 | c.777T>G (p.Ala259=) c.654T>G (p.Ala218=) n.327T>G | |
3 | g.81646397A>G | CA434493943 | GBE1 | c.777T>C (p.Ala259=) c.654T>C (p.Ala218=) n.327T>C | gnomAD v4 |
3 | g.81646397A>T | CA434493942 | GBE1 | c.777T>A (p.Ala259=) c.654T>A (p.Ala218=) n.327T>A | |
3 | g.81646398G>A | CA353688003 | GBE1 | c.776C>T (p.Ala259Val) c.653C>T (p.Ala218Val) n.326C>T | |
3 | g.81646398G>C | CA353688004 | GBE1 | c.776C>G (p.Ala259Gly) c.653C>G (p.Ala218Gly) n.326C>G | ClinVar dbSNP |
3 | g.81646398G= | CA1378729097 | GBE1 | c.776C= (p.Ala259=) c.653C= (p.Ala218=) n.326C= | |
3 | g.81646398G>T | CA353688002 | GBE1 | c.776C>A (p.Ala259Asp) c.653C>A (p.Ala218Asp) n.326C>A | gnomAD v4 |
3 | g.81646399C>A | CA353688005 | GBE1 | c.775G>T (p.Ala259Ser) c.652G>T (p.Ala218Ser) n.325G>T | dbSNP |
3 | g.81646399C= | CA1378729098 | GBE1 | c.775G= (p.Ala259=) c.652G= (p.Ala218=) n.325G= | |
3 | g.81646399C>G | CA353688006 | GBE1 | c.775G>C (p.Ala259Pro) c.652G>C (p.Ala218Pro) n.325G>C | |
3 | g.81646399C>T | CA2499871 | GBE1 | c.775G>A (p.Ala259Thr) c.652G>A (p.Ala218Thr) n.325G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.81646400T>A | CA434493944 | GBE1 | c.774A>T (p.Ala258=) c.651A>T (p.Ala217=) n.324A>T | |
3 | g.81646400T>C | CA434493945 | GBE1 | c.774A>G (p.Ala258=) c.651A>G (p.Ala217=) n.324A>G | |
3 | g.81646400T>G | CA434493946 | GBE1 | c.774A>C (p.Ala258=) c.651A>C (p.Ala217=) n.324A>C | ClinVar dbSNP |
3 | g.81646400T= | CA1378729099 | GBE1 | c.774A= (p.Ala258=) c.651A= (p.Ala217=) n.324A= | |
3 | g.81646401G>A | CA353688007 | GBE1 | c.773C>T (p.Ala258Val) c.650C>T (p.Ala217Val) n.323C>T | dbSNP gnomAD v4 |
3 | g.81646401G>C | CA353688008 | GBE1 | c.773C>G (p.Ala258Gly) c.650C>G (p.Ala217Gly) n.323C>G | |
3 | g.81646401G= | CA1378729100 | GBE1 | c.773C= (p.Ala258=) c.650C= (p.Ala217=) n.323C= | |
3 | g.81646401G>T | CA353688009 | GBE1 | c.773C>A (p.Ala258Glu) c.650C>A (p.Ala217Glu) n.323C>A | gnomAD v4 |
3 | g.81646402C>A | CA353688012 | GBE1 | c.772G>T (p.Ala258Ser) c.649G>T (p.Ala217Ser) n.322G>T | |
3 | g.81646402C>G | CA353688010 | GBE1 | c.772G>C (p.Ala258Pro) c.649G>C (p.Ala217Pro) n.322G>C | |
3 | g.81646402C>T | CA353688011 | GBE1 | c.772G>A (p.Ala258Thr) c.649G>A (p.Ala217Thr) n.322G>A | |
3 | g.81646403A= | CA1378729101 | GBE1 | c.771T= (p.Phe257=) c.648T= (p.Phe216=) n.321T= | |
3 | g.81646403A>C | CA353688013 | GBE1 | c.771T>G (p.Phe257Leu) c.648T>G (p.Phe216Leu) n.321T>G | |
3 | g.81646403A>G | CA434493947 | GBE1 | c.771T>C (p.Phe257=) c.648T>C (p.Phe216=) n.321T>C | |
3 | g.81646403A>T | CA115749 | GBE1 | c.771T>A (p.Phe257Leu) c.648T>A (p.Phe216Leu) n.321T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.81646404A= | CA1378729102 | GBE1 | c.770T= (p.Phe257=) c.647T= (p.Phe216=) n.320T= | |
3 | g.81646404A>C | CA353688014 | GBE1 | c.770T>G (p.Phe257Cys) c.647T>G (p.Phe216Cys) n.320T>G | |
3 | g.81646404A>G | CA353688015 | GBE1 | c.770T>C (p.Phe257Ser) c.647T>C (p.Phe216Ser) n.320T>C | ClinVar dbSNP |
3 | g.81646404A>T | CA353688016 | GBE1 | c.770T>A (p.Phe257Tyr) c.647T>A (p.Phe216Tyr) n.320T>A | |
3 | g.81646405A>C | CA353688019 | GBE1 | c.769T>G (p.Phe257Val) c.646T>G (p.Phe216Val) n.319T>G | |
3 | g.81646405A>G | CA353688018 | GBE1 | c.769T>C (p.Phe257Leu) c.646T>C (p.Phe216Leu) n.319T>C | |
3 | g.81646405A>T | CA353688017 | GBE1 | c.769T>A (p.Phe257Ile) c.646T>A (p.Phe216Ile) n.319T>A | |
3 | g.81646406G>A | CA434493948 | GBE1 | c.768C>T (p.Phe256=) c.645C>T (p.Phe215=) n.318C>T | ClinVar dbSNP |
3 | g.81646406G>C | CA353688020 | GBE1 | c.768C>G (p.Phe256Leu) c.645C>G (p.Phe215Leu) n.318C>G | |
3 | g.81646406G= | CA1378729103 | GBE1 | c.768C= (p.Phe256=) c.645C= (p.Phe215=) n.318C= | |
3 | g.81646406G>T | CA353688021 | GBE1 | c.768C>A (p.Phe256Leu) c.645C>A (p.Phe215Leu) n.318C>A | |
3 | g.81646407A>C | CA353688022 | GBE1 | c.767T>G (p.Phe256Cys) c.644T>G (p.Phe215Cys) n.317T>G | |
3 | g.81646407A>G | CA353688023 | GBE1 | c.767T>C (p.Phe256Ser) c.644T>C (p.Phe215Ser) n.317T>C | |
3 | g.81646407A>T | CA353688024 | GBE1 | c.767T>A (p.Phe256Tyr) c.644T>A (p.Phe215Tyr) n.317T>A | |
3 | g.81646408A>C | CA353688025 | GBE1 | c.766T>G (p.Phe256Val) c.643T>G (p.Phe215Val) n.316T>G | COSMIC COSMIC |
3 | g.81646408A>G | CA353688026 | GBE1 | c.766T>C (p.Phe256Leu) c.643T>C (p.Phe215Leu) n.316T>C | |
3 | g.81646408A>T | CA353688027 | GBE1 | c.766T>A (p.Phe256Ile) c.643T>A (p.Phe215Ile) n.316T>A | |
3 | g.81646409G>A | CA434493949 | GBE1 | c.765C>T (p.Ser255=) c.642C>T (p.Ser214=) n.315C>T | gnomAD v4 |
3 | g.81646409G>C | CA353688028 | GBE1 | c.765C>G (p.Ser255Arg) c.642C>G (p.Ser214Arg) n.315C>G | gnomAD v4 |
3 | g.81646409G>T | CA353688029 | GBE1 | c.765C>A (p.Ser255Arg) c.642C>A (p.Ser214Arg) n.315C>A | gnomAD v4 |
3 | g.81646410C>A | CA353688030 | GBE1 | c.764G>T (p.Ser255Ile) c.641G>T (p.Ser214Ile) n.314G>T | |
3 | g.81646410C= | CA1378729104 | GBE1 | c.764G= (p.Ser255=) c.641G= (p.Ser214=) n.314G= | |
3 | g.81646410C>G | CA353688031 | GBE1 | c.764G>C (p.Ser255Thr) c.641G>C (p.Ser214Thr) n.314G>C | gnomAD v4 |
3 | g.81646410C>T | CA353688032 | GBE1 | c.764G>A (p.Ser255Asn) c.641G>A (p.Ser214Asn) n.314G>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.81646411T>A | CA353688033 | GBE1 | c.763A>T (p.Ser255Cys) c.640A>T (p.Ser214Cys) n.313A>T | |
3 | g.81646411T>C | CA353688034 | GBE1 | c.763A>G (p.Ser255Gly) c.640A>G (p.Ser214Gly) n.313A>G | |
3 | g.81646411T>G | CA353688035 | GBE1 | c.763A>C (p.Ser255Arg) c.640A>C (p.Ser214Arg) n.313A>C | |
3 | g.81646412T>A | CA434493950 | GBE1 | c.762A>T (p.Thr254=) c.639A>T (p.Thr213=) n.312A>T | |
3 | g.81646412T>C | CA434493951 | GBE1 | c.762A>G (p.Thr254=) c.639A>G (p.Thr213=) n.312A>G | ClinVar |
3 | g.81646412T>G | CA434493952 | GBE1 | c.762A>C (p.Thr254=) c.639A>C (p.Thr213=) n.312A>C | |
3 | g.81646413G>A | CA353688036 | GBE1 | c.761C>T (p.Thr254Ile) c.638C>T (p.Thr213Ile) n.311C>T | |
3 | g.81646413G>C | CA353688038 | GBE1 | c.761C>G (p.Thr254Arg) c.638C>G (p.Thr213Arg) n.311C>G | |
3 | g.81646413G>T | CA353688037 | GBE1 | c.761C>A (p.Thr254Lys) c.638C>A (p.Thr213Lys) n.311C>A | |
3 | g.81646414T>A | CA353688039 | GBE1 | c.760A>T (p.Thr254Ser) c.637A>T (p.Thr213Ser) n.310A>T | |
3 | g.81646414T>C | CA2499872 | GBE1 | c.760A>G (p.Thr254Ala) c.637A>G (p.Thr213Ala) n.310A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.81646414T>G | CA353688040 | GBE1 | c.760A>C (p.Thr254Pro) c.637A>C (p.Thr213Pro) n.310A>C | |
3 | g.81646414T= | CA1378729105 | GBE1 | c.760A= (p.Thr254=) c.637A= (p.Thr213=) n.310A= | |
3 | g.81646415G>A | CA434493953 | GBE1 | c.759C>T (p.Ile253=) c.636C>T (p.Ile212=) n.309C>T | |
3 | g.81646415G>C | CA353688041 | GBE1 | c.759C>G (p.Ile253Met) c.636C>G (p.Ile212Met) n.309C>G | |
3 | g.81646415G>T | CA434493954 | GBE1 | c.759C>A (p.Ile253=) c.636C>A (p.Ile212=) n.309C>A | |
3 | g.81646416A>C | CA353688042 | GBE1 | c.758T>G (p.Ile253Ser) c.635T>G (p.Ile212Ser) n.308T>G | |
3 | g.81646416A>G | CA353688043 | GBE1 | c.758T>C (p.Ile253Thr) c.635T>C (p.Ile212Thr) n.308T>C | |
3 | g.81646416A>T | CA353688044 | GBE1 | c.758T>A (p.Ile253Asn) c.635T>A (p.Ile212Asn) n.308T>A | |
3 | g.81646417T>A | CA353688045 | GBE1 | c.757A>T (p.Ile253Phe) c.634A>T (p.Ile212Phe) n.307A>T | |
3 | g.81646417T>C | CA353688046 | GBE1 | c.757A>G (p.Ile253Val) c.634A>G (p.Ile212Val) n.307A>G | ClinVar dbSNP |
3 | g.81646417T>G | CA353688047 | GBE1 | c.757A>C (p.Ile253Leu) c.634A>C (p.Ile212Leu) n.307A>C | |
3 | g.81646418T>A | CA353688048 | GBE1 | c.756A>T (p.Gln252His) c.633A>T (p.Gln211His) n.306A>T | |
3 | g.81646418T>C | CA434493955 | GBE1 | c.756A>G (p.Gln252=) c.633A>G (p.Gln211=) n.306A>G | |
3 | g.81646418T>G | CA353688049 | GBE1 | c.756A>C (p.Gln252His) c.633A>C (p.Gln211His) n.306A>C | |
3 | g.81646418_81646419delinsG | CA2695197944 | GBE1 | c.755_756delinsC (p.Gln252ProfsTer22) c.632_633delinsC (p.Gln211ProfsTer22) n.305_306delinsC | ClinVar |
3 | g.81646419T>A | CA353688050 | GBE1 | c.755A>T (p.Gln252Leu) c.632A>T (p.Gln211Leu) n.305A>T | |
3 | g.81646419T>C | CA353688052 | GBE1 | c.755A>G (p.Gln252Arg) c.632A>G (p.Gln211Arg) n.305A>G | gnomAD v4 |
3 | g.81646419T>G | CA353688051 | GBE1 | c.755A>C (p.Gln252Pro) c.632A>C (p.Gln211Pro) n.305A>C | |
3 | g.81646420G>A | CA353688053 | GBE1 | c.754C>T (p.Gln252Ter) c.631C>T (p.Gln211Ter) n.304C>T | ClinVar |
3 | g.81646420G>C | CA353688054 | GBE1 | c.754C>G (p.Gln252Glu) c.631C>G (p.Gln211Glu) n.304C>G | |
3 | g.81646420G>T | CA353688055 | GBE1 | c.754C>A (p.Gln252Lys) c.631C>A (p.Gln211Lys) n.304C>A | gnomAD v4 |
3 | g.81646421G>A | CA434493956 | GBE1 | c.753C>T (p.Tyr251=) c.630C>T (p.Tyr210=) n.303C>T | |
3 | g.81646421G>C | CA353688056 | GBE1 | c.753C>G (p.Tyr251Ter) c.630C>G (p.Tyr210Ter) n.303C>G | ClinVar |
3 | g.81646421G= | CA1378729106 | GBE1 | c.753C= (p.Tyr251=) c.630C= (p.Tyr210=) n.303C= | |
3 | g.81646421G>T | CA353688057 | GBE1 | c.753C>A (p.Tyr251Ter) c.630C>A (p.Tyr210Ter) n.303C>A | dbSNP |
3 | g.81646422T>A | CA353688060 | GBE1 | c.752A>T (p.Tyr251Phe) c.629A>T (p.Tyr210Phe) n.302A>T | |
3 | g.81646422T>C | CA353688059 | GBE1 | c.752A>G (p.Tyr251Cys) c.629A>G (p.Tyr210Cys) n.302A>G | |
3 | g.81646422T>G | CA353688058 | GBE1 | c.752A>C (p.Tyr251Ser) c.629A>C (p.Tyr210Ser) n.302A>C | |
3 | g.81646423A>C | CA353688061 | GBE1 | c.751T>G (p.Tyr251Asp) c.628T>G (p.Tyr210Asp) n.301T>G | |
3 | g.81646423A>G | CA353688062 | GBE1 | c.751T>C (p.Tyr251His) c.628T>C (p.Tyr210His) n.301T>C | |
3 | g.81646423A>T | CA353688063 | GBE1 | c.751T>A (p.Tyr251Asn) c.628T>A (p.Tyr210Asn) n.301T>A | |
3 | g.81646424A>C | CA434493957 | GBE1 | c.750T>G (p.Gly250=) c.627T>G (p.Gly209=) n.300T>G | |
3 | g.81646424A>G | CA434493959 | GBE1 | c.750T>C (p.Gly250=) c.627T>C (p.Gly209=) n.300T>C | |
3 | g.81646424A>T | CA434493958 | GBE1 | c.750T>A (p.Gly250=) c.627T>A (p.Gly209=) n.300T>A | |
3 | g.81646425C>A | CA353688064 | GBE1 | c.749G>T (p.Gly250Val) c.626G>T (p.Gly209Val) n.299G>T | |
3 | g.81646425C>G | CA353688065 | GBE1 | c.749G>C (p.Gly250Ala) c.626G>C (p.Gly209Ala) n.299G>C | COSMIC COSMIC |
3 | g.81646425C>T | CA353688066 | GBE1 | c.749G>A (p.Gly250Asp) c.626G>A (p.Gly209Asp) n.299G>A | |
3 | g.81646426C>A | CA353688067 | GBE1 | c.748G>T (p.Gly250Cys) c.625G>T (p.Gly209Cys) n.298G>T | ClinVar |
3 | g.81646426C>G | CA353688069 | GBE1 | c.748G>C (p.Gly250Arg) c.625G>C (p.Gly209Arg) n.298G>C | |
3 | g.81646426C>T | CA353688068 | GBE1 | c.748G>A (p.Gly250Ser) c.625G>A (p.Gly209Ser) n.298G>A | |
3 | g.81646427A>C | CA353688070 | GBE1 | c.747T>G (p.Phe249Leu) c.624T>G (p.Phe208Leu) n.297T>G | |
3 | g.81646427A>G | CA434493960 | GBE1 | c.747T>C (p.Phe249=) c.624T>C (p.Phe208=) n.297T>C | |
3 | g.81646427A>T | CA353688071 | GBE1 | c.747T>A (p.Phe249Leu) c.624T>A (p.Phe208Leu) n.297T>A | |
3 | g.81646428A= | CA1378729107 | GBE1 | c.746T= (p.Phe249=) c.623T= (p.Phe208=) n.296T= | |
3 | g.81646428A>C | CA353688072 | GBE1 | c.746T>G (p.Phe249Cys) c.623T>G (p.Phe208Cys) n.296T>G | COSMIC COSMIC |
3 | g.81646428A>G | CA353688073 | GBE1 | c.746T>C (p.Phe249Ser) c.623T>C (p.Phe208Ser) n.296T>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.81646428A>T | CA353688074 | GBE1 | c.746T>A (p.Phe249Tyr) c.623T>A (p.Phe208Tyr) n.296T>A | |
3 | g.81646429A= | CA1378729108 | GBE1 | c.745T= (p.Phe249=) c.622T= (p.Phe208=) n.295T= | |
3 | g.81646429A>C | CA353688075 | GBE1 | c.745T>G (p.Phe249Val) c.622T>G (p.Phe208Val) n.295T>G | |
3 | g.81646429A>G | CA353688076 | GBE1 | c.745T>C (p.Phe249Leu) c.622T>C (p.Phe208Leu) n.295T>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.81646429A>T | CA353688077 | GBE1 | c.745T>A (p.Phe249Ile) c.622T>A (p.Phe208Ile) n.295T>A | |
3 | g.81646430G>A | CA434493961 | GBE1 | c.744C>T (p.Ser248=) c.621C>T (p.Ser207=) n.294C>T | |
3 | g.81646430G>C | CA2499873 | GBE1 | c.744C>G (p.Ser248Arg) c.621C>G (p.Ser207Arg) n.294C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.81646430G= | CA1378729109 | GBE1 | c.744C= (p.Ser248=) c.621C= (p.Ser207=) n.294C= | |
3 | g.81646430G>T | CA353688078 | GBE1 | c.744C>A (p.Ser248Arg) c.621C>A (p.Ser207Arg) n.294C>A | |
3 | g.81646431C>A | CA353688079 | GBE1 | c.743G>T (p.Ser248Ile) c.620G>T (p.Ser207Ile) n.293G>T | |
3 | g.81646431C>G | CA353688081 | GBE1 | c.743G>C (p.Ser248Thr) c.620G>C (p.Ser207Thr) n.293G>C | |
3 | g.81646431C>T | CA353688080 | GBE1 | c.743G>A (p.Ser248Asn) c.620G>A (p.Ser207Asn) n.293G>A | |
3 | g.81646432T>A | CA353688082 | GBE1 | c.742A>T (p.Ser248Cys) c.619A>T (p.Ser207Cys) n.292A>T | |
3 | g.81646432T>C | CA353688084 | GBE1 | c.742A>G (p.Ser248Gly) c.619A>G (p.Ser207Gly) n.292A>G | |
3 | g.81646432T>G | CA353688083 | GBE1 | c.742A>C (p.Ser248Arg) c.619A>C (p.Ser207Arg) n.292A>C | |
3 | g.81646433G>A | CA434493962 | GBE1 | c.741C>T (p.Ala247=) c.618C>T (p.Ala206=) n.291C>T | gnomAD v4 |
3 | g.81646433G>C | CA434493963 | GBE1 | c.741C>G (p.Ala247=) c.618C>G (p.Ala206=) n.291C>G | |
3 | g.81646433G>T | CA434493964 | GBE1 | c.741C>A (p.Ala247=) c.618C>A (p.Ala206=) n.291C>A | |
3 | g.81646434del | CA2666623889 | GBE1 | c.741del (p.Ser248AlafsTer26) c.618del (p.Ser207AlafsTer26) n.291del | gnomAD v4 |
3 | g.81646434G>A | CA353688085 | GBE1 | c.740C>T (p.Ala247Val) c.617C>T (p.Ala206Val) n.290C>T | COSMIC COSMIC |
3 | g.81646434G>C | CA353688086 | GBE1 | c.740C>G (p.Ala247Gly) c.617C>G (p.Ala206Gly) n.290C>G | gnomAD v4 |
3 | g.81646434G>T | CA353688087 | GBE1 | c.740C>A (p.Ala247Asp) c.617C>A (p.Ala206Asp) n.290C>A | |
3 | g.81646435C>A | CA353688088 | GBE1 | c.739G>T (p.Ala247Ser) c.616G>T (p.Ala206Ser) n.289G>T | |
3 | g.81646435C>G | CA353688089 | GBE1 | c.739G>C (p.Ala247Pro) c.616G>C (p.Ala206Pro) n.289G>C | |
3 | g.81646435C>T | CA353688090 | GBE1 | c.739G>A (p.Ala247Thr) c.616G>A (p.Ala206Thr) n.289G>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.81646436A= | CA1378729110 | GBE1 | c.738T= (p.Tyr246=) c.615T= (p.Tyr205=) n.288T= | |
3 | g.81646436A>C | CA353688091 | GBE1 | c.738T>G (p.Tyr246Ter) c.615T>G (p.Tyr205Ter) n.288T>G | |
3 | g.81646436A>G | CA434493965 | GBE1 | c.738T>C (p.Tyr246=) c.615T>C (p.Tyr205=) n.288T>C | dbSNP |
3 | g.81646436A>T | CA353688092 | GBE1 | c.738T>A (p.Tyr246Ter) c.615T>A (p.Tyr205Ter) n.288T>A | |
3 | g.81646437T>A | CA353688093 | GBE1 | c.737A>T (p.Tyr246Phe) c.614A>T (p.Tyr205Phe) n.287A>T | |
3 | g.81646437T>C | CA353688094 | GBE1 | c.737A>G (p.Tyr246Cys) c.614A>G (p.Tyr205Cys) n.287A>G | |
3 | g.81646437T>G | CA353688095 | GBE1 | c.737A>C (p.Tyr246Ser) c.614A>C (p.Tyr205Ser) n.287A>C | dbSNP |
3 | g.81646437T= | CA1378729111 | GBE1 | c.737A= (p.Tyr246=) c.614A= (p.Tyr205=) n.287A= | |
3 | g.81646438A>C | CA353688096 | GBE1 | c.736T>G (p.Tyr246Asp) c.613T>G (p.Tyr205Asp) n.286T>G | |
3 | g.81646438A>G | CA353688097 | GBE1 | c.736T>C (p.Tyr246His) c.613T>C (p.Tyr205His) n.286T>C | |
3 | g.81646438A>T | CA353688098 | GBE1 | c.736T>A (p.Tyr246Asn) c.613T>A (p.Tyr205Asn) n.286T>A | |
3 | g.81646439G>A | CA434493966 | GBE1 | c.735C>T (p.Tyr245=) c.612C>T (p.Tyr204=) n.285C>T | dbSNP gnomAD v4 |
3 | g.81646439G>C | CA353688099 | GBE1 | c.735C>G (p.Tyr245Ter) c.612C>G (p.Tyr204Ter) n.285C>G | |
3 | g.81646439G= | CA1378729112 | GBE1 | c.735C= (p.Tyr245=) c.612C= (p.Tyr204=) n.285C= | |
3 | g.81646439G>T | CA353688100 | GBE1 | c.735C>A (p.Tyr245Ter) c.612C>A (p.Tyr204Ter) n.285C>A | |
3 | g.81646440T>A | CA353688101 | GBE1 | c.734A>T (p.Tyr245Phe) c.611A>T (p.Tyr204Phe) n.284A>T | |
3 | g.81646440T>C | CA353688102 | GBE1 | c.734A>G (p.Tyr245Cys) c.611A>G (p.Tyr204Cys) n.284A>G | |
3 | g.81646440T>G | CA353688103 | GBE1 | c.734A>C (p.Tyr245Ser) c.611A>C (p.Tyr204Ser) n.284A>C | |
3 | g.81646441A>C | CA353688104 | GBE1 | c.733T>G (p.Tyr245Asp) c.610T>G (p.Tyr204Asp) n.283T>G | gnomAD v4 |
3 | g.81646441A>G | CA353688105 | GBE1 | c.733T>C (p.Tyr245His) c.610T>C (p.Tyr204His) n.283T>C | ClinVar dbSNP gnomAD v4 |
3 | g.81646441A>T | CA353688106 | GBE1 | c.733T>A (p.Tyr245Asn) c.610T>A (p.Tyr204Asn) n.283T>A | |
3 | g.81646442A>C | CA434493967 | GBE1 | c.732T>G (p.Ala244=) c.609T>G (p.Ala203=) n.282T>G | |
3 | g.81646442A>G | CA434493968 | GBE1 | c.732T>C (p.Ala244=) c.609T>C (p.Ala203=) n.282T>C | |
3 | g.81646442A>T | CA434493969 | GBE1 | c.732T>A (p.Ala244=) c.609T>A (p.Ala203=) n.282T>A | |
3 | g.81646443G>A | CA353688107 | GBE1 | c.731C>T (p.Ala244Val) c.608C>T (p.Ala203Val) n.281C>T | dbSNP |
3 | g.81646443G>C | CA353688108 | GBE1 | c.731C>G (p.Ala244Gly) c.608C>G (p.Ala203Gly) n.281C>G | gnomAD v4 |
3 | g.81646443G= | CA1378729113 | GBE1 | c.731C= (p.Ala244=) c.608C= (p.Ala203=) n.281C= | |
3 | g.81646443G>T | CA353688109 | GBE1 | c.731C>A (p.Ala244Asp) c.608C>A (p.Ala203Asp) n.281C>A | |
3 | g.81646444C>A | CA353688110 | GBE1 | c.730G>T (p.Ala244Ser) c.607G>T (p.Ala203Ser) n.280G>T | |
3 | g.81646444C>G | CA353688111 | GBE1 | c.730G>C (p.Ala244Pro) c.607G>C (p.Ala203Pro) n.280G>C | |
3 | g.81646444C>T | CA353688112 | GBE1 | c.730G>A (p.Ala244Thr) c.607G>A (p.Ala203Thr) n.280G>A | gnomAD v4 |
3 | g.81646445A>C | CA353688114 | GBE1 | c.729T>G (p.His243Gln) c.606T>G (p.His202Gln) n.279T>G | |
3 | g.81646445A>G | CA434493970 | GBE1 | c.729T>C (p.His243=) c.606T>C (p.His202=) n.279T>C | |
3 | g.81646445A>T | CA353688113 | GBE1 | c.729T>A (p.His243Gln) c.606T>A (p.His202Gln) n.279T>A | |
3 | g.81646446T>A | CA353688115 | GBE1 | c.728A>T (p.His243Leu) c.605A>T (p.His202Leu) n.278A>T | gnomAD v4 |
3 | g.81646446T>C | CA353688116 | GBE1 | c.728A>G (p.His243Arg) c.605A>G (p.His202Arg) n.278A>G | |
3 | g.81646446T>G | CA353688117 | GBE1 | c.728A>C (p.His243Pro) c.605A>C (p.His202Pro) n.278A>C | |
3 | g.81646447G>A | CA353688118 | GBE1 | c.727C>T (p.His243Tyr) c.604C>T (p.His202Tyr) n.277C>T | |
3 | g.81646447G>C | CA353688119 | GBE1 | c.727C>G (p.His243Asp) c.604C>G (p.His202Asp) n.277C>G | |
3 | g.81646447G>T | CA353688120 | GBE1 | c.727C>A (p.His243Asn) c.604C>A (p.His202Asn) n.277C>A | gnomAD v4 |
3 | g.81646448C>A | CA353688122 | GBE1 | c.726G>T (p.Glu242Asp) c.603G>T (p.Glu201Asp) n.276G>T | gnomAD v4 |
3 | g.81646448C>G | CA353688121 | GBE1 | c.726G>C (p.Glu242Asp) c.603G>C (p.Glu201Asp) n.276G>C | |
3 | g.81646448C>T | CA434493971 | GBE1 | c.726G>A (p.Glu242=) c.603G>A (p.Glu201=) n.276G>A | |
3 | g.81646449T>A | CA353688123 | GBE1 | c.725A>T (p.Glu242Val) c.602A>T (p.Glu201Val) n.275A>T | |
3 | g.81646449T>C | CA353688124 | GBE1 | c.725A>G (p.Glu242Gly) c.602A>G (p.Glu201Gly) n.275A>G | gnomAD v4 |
3 | g.81646449T>G | CA353688125 | GBE1 | c.725A>C (p.Glu242Ala) c.602A>C (p.Glu201Ala) n.275A>C | |
3 | g.81646450C>A | CA353688126 | GBE1 | c.724G>T (p.Glu242Ter) c.601G>T (p.Glu201Ter) n.274G>T | |
3 | g.81646450C= | CA1378729114 | GBE1 | c.724G= (p.Glu242=) c.601G= (p.Glu201=) n.274G= | |
3 | g.81646450C>G | CA353688127 | GBE1 | c.724G>C (p.Glu242Gln) c.601G>C (p.Glu201Gln) n.274G>C | gnomAD v4 |
3 | g.81646450C>T | CA353688128 | GBE1 | c.724G>A (p.Glu242Lys) c.601G>A (p.Glu201Lys) n.274G>A | dbSNP gnomAD v4 |
3 | g.81646451C>A | CA353688131 | GBE1 | c.723G>T (p.Met241Ile) c.600G>T (p.Met200Ile) n.273G>T | dbSNP |
3 | g.81646451C= | CA1378729115 | GBE1 | c.723G= (p.Met241=) c.600G= (p.Met200=) n.273G= | |
3 | g.81646451C>G | CA353688129 | GBE1 | c.723G>C (p.Met241Ile) c.600G>C (p.Met200Ile) n.273G>C | |
3 | g.81646451C>T | CA353688130 | GBE1 | c.723G>A (p.Met241Ile) c.600G>A (p.Met200Ile) n.273G>A | gnomAD v4 |
3 | g.81646452A= | CA1378729116 | GBE1 | c.722T= (p.Met241=) c.599T= (p.Met200=) n.272T= | |
3 | g.81646452A>C | CA353688132 | GBE1 | c.722T>G (p.Met241Arg) c.599T>G (p.Met200Arg) n.272T>G | |
3 | g.81646452A>G | CA353688133 | GBE1 | c.722T>C (p.Met241Thr) c.599T>C (p.Met200Thr) n.272T>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.81646452A>T | CA353688134 | GBE1 | c.722T>A (p.Met241Lys) c.599T>A (p.Met200Lys) n.272T>A | |
3 | g.81646453T>A | CA353688135 | GBE1 | c.721A>T (p.Met241Leu) c.598A>T (p.Met200Leu) n.271A>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.81646453T>C | CA2499874 | GBE1 | c.721A>G (p.Met241Val) c.598A>G (p.Met200Val) n.271A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.81646453T>G | CA353688136 | GBE1 | c.721A>C (p.Met241Leu) c.598A>C (p.Met200Leu) n.271A>C | |
3 | g.81646453T= | CA1378729117 | GBE1 | c.721A= (p.Met241=) c.598A= (p.Met200=) n.271A= | |
3 | g.81646454G>A | CA434493972 | GBE1 | c.720C>T (p.Ile240=) c.597C>T (p.Ile199=) n.270C>T | ClinVar |
3 | g.81646454G>C | CA353688137 | GBE1 | c.720C>G (p.Ile240Met) c.597C>G (p.Ile199Met) n.270C>G | |
3 | g.81646454G>T | CA434493973 | GBE1 | c.720C>A (p.Ile240=) c.597C>A (p.Ile199=) n.270C>A | |
3 | g.81646454_81646455delinsGA | CA1378729118 | GBE1 | c.719_720delinsTC (p.Ile240=) c.596_597delinsTC (p.Ile199=) n.269_270delinsTC | |
3 | g.81646455del | CA911022032 | GBE1 | c.719del (p.Ile240ThrfsTer?) c.596del (p.Ile199ThrfsTer?) n.269del | dbSNP |
3 | g.81646455A>C | CA353688138 | GBE1 | c.719T>G (p.Ile240Ser) c.596T>G (p.Ile199Ser) n.269T>G | |
3 | g.81646455A>G | CA353688139 | GBE1 | c.719T>C (p.Ile240Thr) c.596T>C (p.Ile199Thr) n.269T>C | |
3 | g.81646455A>T | CA353688140 | GBE1 | c.719T>A (p.Ile240Asn) c.596T>A (p.Ile199Asn) n.269T>A | |
3 | g.81646456T>A | CA353688141 | GBE1 | c.718A>T (p.Ile240Phe) c.595A>T (p.Ile199Phe) n.268A>T | |
3 | g.81646456T>C | CA78292184 | GBE1 | c.718A>G (p.Ile240Val) c.595A>G (p.Ile199Val) n.268A>G | ClinVar dbSNP gnomAD v4 |
3 | g.81646456T>G | CA353688142 | GBE1 | c.718A>C (p.Ile240Leu) c.595A>C (p.Ile199Leu) n.268A>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.81646456T= | CA1378729119 | GBE1 | c.718A= (p.Ile240=) c.595A= (p.Ile199=) n.268A= |